Incidental Mutation 'IGL01125:Phf20'
ID 50579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phf20
Ensembl Gene ENSMUSG00000038116
Gene Name PHD finger protein 20
Synonyms 6820402O20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # IGL01125
Quality Score
Status
Chromosome 2
Chromosomal Location 156038567-156151873 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 156145104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037401]
AlphaFold Q8BLG0
Predicted Effect probably null
Transcript: ENSMUST00000037401
SMART Domains Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116

DomainStartEndE-ValueType
TUDOR 11 71 5.27e0 SMART
TUDOR 85 141 7.13e-4 SMART
AT_hook 257 269 1.65e0 SMART
low complexity region 323 332 N/A INTRINSIC
ZnF_C2H2 455 480 1.86e0 SMART
low complexity region 486 493 N/A INTRINSIC
low complexity region 526 555 N/A INTRINSIC
low complexity region 612 630 N/A INTRINSIC
PHD 657 701 2.83e-4 SMART
coiled coil region 945 966 N/A INTRINSIC
low complexity region 974 987 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152617
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased body size and total body fat amount, and abnormal skeletal and hematopoietic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 C T X: 159,275,704 (GRCm39) T931I probably damaging Het
Atp5mc3 A G 2: 73,741,293 (GRCm39) probably benign Het
Btd T A 14: 31,389,733 (GRCm39) F485I probably benign Het
Camk2d A G 3: 126,591,934 (GRCm39) probably benign Het
Cd300lg A T 11: 101,945,047 (GRCm39) probably benign Het
Col9a1 A G 1: 24,263,726 (GRCm39) probably null Het
Cybb T A X: 9,312,983 (GRCm39) N367I possibly damaging Het
Dcaf17 T C 2: 70,920,149 (GRCm39) V479A probably benign Het
Dscaml1 G T 9: 45,660,930 (GRCm39) probably null Het
Espl1 T C 15: 102,231,373 (GRCm39) F51S probably damaging Het
Gsdmc3 T A 15: 63,733,306 (GRCm39) D258V probably benign Het
Gvin-ps3 A T 7: 105,682,021 (GRCm39) N411K unknown Het
Ifngr1 C T 10: 19,473,161 (GRCm39) probably benign Het
Kcnip1 A T 11: 33,583,202 (GRCm39) D194E probably damaging Het
Lrrtm1 C T 6: 77,221,436 (GRCm39) R298C probably damaging Het
Map3k4 G A 17: 12,490,849 (GRCm39) S194L probably damaging Het
Mmp16 A G 4: 18,112,066 (GRCm39) K481E possibly damaging Het
Myh1 A T 11: 67,111,486 (GRCm39) M1642L probably benign Het
Nol9 G T 4: 152,131,066 (GRCm39) C363F probably damaging Het
Nsd1 T C 13: 55,393,430 (GRCm39) S344P probably damaging Het
Or52e5 A T 7: 104,718,808 (GRCm39) I45F probably benign Het
Ppp3cc G T 14: 70,455,701 (GRCm39) H467Q probably damaging Het
Rab28 A G 5: 41,793,237 (GRCm39) M136T probably benign Het
Rag1 A G 2: 101,472,346 (GRCm39) I932T probably damaging Het
Sez6 T C 11: 77,868,115 (GRCm39) probably benign Het
Slc49a3 A G 5: 108,592,458 (GRCm39) probably benign Het
Sorcs1 T C 19: 50,216,639 (GRCm39) T647A probably damaging Het
Sspo T A 6: 48,469,822 (GRCm39) C4507S probably damaging Het
Traf3ip3 T C 1: 192,866,772 (GRCm39) probably null Het
Vmn2r121 T A X: 123,042,504 (GRCm39) I218F probably damaging Het
Vmn2r61 A G 7: 41,909,550 (GRCm39) Y25C probably damaging Het
Other mutations in Phf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Phf20 APN 2 156,146,736 (GRCm39) critical splice donor site probably null
IGL01071:Phf20 APN 2 156,136,008 (GRCm39) splice site probably null
IGL01608:Phf20 APN 2 156,118,516 (GRCm39) missense probably benign
IGL01610:Phf20 APN 2 156,144,809 (GRCm39) nonsense probably null
IGL01845:Phf20 APN 2 156,118,577 (GRCm39) nonsense probably null
IGL02364:Phf20 APN 2 156,136,017 (GRCm39) missense possibly damaging 0.80
IGL02692:Phf20 APN 2 156,140,498 (GRCm39) missense probably damaging 1.00
IGL03039:Phf20 APN 2 156,140,461 (GRCm39) missense probably damaging 1.00
R0016:Phf20 UTSW 2 156,109,114 (GRCm39) nonsense probably null
R0189:Phf20 UTSW 2 156,145,061 (GRCm39) missense probably benign 0.02
R1532:Phf20 UTSW 2 156,144,969 (GRCm39) missense possibly damaging 0.89
R1572:Phf20 UTSW 2 156,129,754 (GRCm39) missense probably benign 0.17
R2007:Phf20 UTSW 2 156,129,874 (GRCm39) missense probably benign 0.00
R2191:Phf20 UTSW 2 156,118,574 (GRCm39) missense probably benign
R3011:Phf20 UTSW 2 156,129,946 (GRCm39) missense probably benign 0.32
R3024:Phf20 UTSW 2 156,129,787 (GRCm39) missense probably damaging 0.96
R4242:Phf20 UTSW 2 156,149,374 (GRCm39) unclassified probably benign
R5053:Phf20 UTSW 2 156,115,782 (GRCm39) missense probably benign 0.00
R5089:Phf20 UTSW 2 156,144,782 (GRCm39) missense probably benign
R5382:Phf20 UTSW 2 156,109,417 (GRCm39) missense probably damaging 1.00
R5649:Phf20 UTSW 2 156,093,688 (GRCm39) splice site probably null
R5707:Phf20 UTSW 2 156,138,691 (GRCm39) splice site probably null
R5751:Phf20 UTSW 2 156,109,261 (GRCm39) missense probably benign 0.01
R5805:Phf20 UTSW 2 156,149,214 (GRCm39) missense probably damaging 0.99
R5988:Phf20 UTSW 2 156,149,250 (GRCm39) missense probably damaging 1.00
R6179:Phf20 UTSW 2 156,140,573 (GRCm39) missense probably damaging 1.00
R6243:Phf20 UTSW 2 156,065,320 (GRCm39) missense probably benign 0.16
R6338:Phf20 UTSW 2 156,115,606 (GRCm39) missense possibly damaging 0.93
R6351:Phf20 UTSW 2 156,136,130 (GRCm39) missense possibly damaging 0.91
R6584:Phf20 UTSW 2 156,136,043 (GRCm39) missense probably damaging 0.99
R7248:Phf20 UTSW 2 156,135,331 (GRCm39) splice site probably null
R7329:Phf20 UTSW 2 156,146,552 (GRCm39) missense probably damaging 0.96
R7387:Phf20 UTSW 2 156,136,160 (GRCm39) missense probably damaging 1.00
R7528:Phf20 UTSW 2 156,144,928 (GRCm39) nonsense probably null
R7603:Phf20 UTSW 2 156,144,771 (GRCm39) missense probably benign
R7698:Phf20 UTSW 2 156,136,058 (GRCm39) missense probably damaging 1.00
R7916:Phf20 UTSW 2 156,129,858 (GRCm39) missense probably damaging 0.96
R7968:Phf20 UTSW 2 156,135,464 (GRCm39) missense probably benign 0.00
R8415:Phf20 UTSW 2 156,129,913 (GRCm39) missense probably benign 0.07
R8843:Phf20 UTSW 2 156,144,843 (GRCm39) missense probably benign
R8849:Phf20 UTSW 2 156,118,440 (GRCm39) missense probably damaging 0.97
R9168:Phf20 UTSW 2 156,109,234 (GRCm39) missense probably benign 0.01
R9180:Phf20 UTSW 2 156,114,537 (GRCm39) missense probably benign 0.31
R9286:Phf20 UTSW 2 156,134,470 (GRCm39) missense probably damaging 0.98
R9297:Phf20 UTSW 2 156,115,690 (GRCm39) missense probably benign
R9318:Phf20 UTSW 2 156,115,690 (GRCm39) missense probably benign
R9414:Phf20 UTSW 2 156,136,167 (GRCm39) missense probably benign 0.38
RF011:Phf20 UTSW 2 156,146,541 (GRCm39) critical splice acceptor site probably benign
RF011:Phf20 UTSW 2 156,146,540 (GRCm39) critical splice acceptor site probably benign
RF028:Phf20 UTSW 2 156,146,543 (GRCm39) critical splice acceptor site probably benign
Z1190:Phf20 UTSW 2 156,129,979 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21